title: De novo interstitial deletion of chromosome 2 (p23p24).
abstract: Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2-2p25.1 and three cases of 2p23.3-2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. The obvious osseous fusion with bone marrow and cortex continuation between proximal parts of radius and ulna-congenital radioulnar synostosis-were first visualized by multidetector-row computed tomography scan.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Pen-Hua
authors.initials: PH
authors.lastname: Su
authors.forename: Jia-Yuh
authors.initials: JY
authors.lastname: Chen
authors.forename: Teng-Fu
authors.initials: TF
authors.lastname: Tsao
authors.forename: Suh-Jen
authors.initials: SJ
authors.lastname: Chen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D002658:Developmental Disabilities / Q000235:genetics; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed